Adeline Vanderver, MD, Program Director of the Leukodystrophy Center in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP), and Co-Principal Investigator of the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), lists key advantages that being part of Rare Diseases Clinical Research Network (RDCRN) has provided.
Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the central and peripheral nervous system. Symptoms vary with each type of leukodystrophy but can dramatically limit movement, sensory abilities, and overall development. Although there are currently no treatments for leukodystrophies, RDCRN-funded research consortia like the GLIA-CTN provide researchers around the world with infrastructure support, funding opportunities, and/or other critical resources needed to collaborate more efficiently to advance our understanding of these rare diseases.
As Dr. Vanderver explains, there are four major areas in which participation in the RDCRN has helped the GLIA-CTN achieve its research objectives. First, the RDCRN provides a framework to collect, assess, retain, and disseminate scientific data in a more standardized way. “Natural history data does very little good if it is at my computer in my institution and stuck there,” noted Dr. Vanderver, adding that “in order for that data to be sustainable, there needs to be a robust infrastructure that exceeds that individual researcher or institution.” The RDCRN provides an infrastructure that permits data to be collected in a standardized fashion and stored centrally such that it can be used easily and compliantly by all researchers interested in conducting rare disease research. In other words, the data becomes a shared resource rather than being “stuck in an academic silo”.
Second, a RDCRN consortium allows existing and future research participants to more easily access research opportunities and resources. “We partner with a total of eight sites, so we have a geographic distribution that is important to families so that all of the work in not being done in one side of the country,” noted Dr. Vanderver.
Third, the consortium provides a framework to train the next generation of researchers. For instance, the GLIA-CTN offers career development and pilot project awards for junior investigators focused on the leukodystrophies, and even offers mentorship in translational research for entry-level clinical research coordinators interested in pursuing careers in medicine.
Finally, RDCRN has a mandate that their consortium must work with patient advocacy organizations. In the leukodystrophy space, where there are currently more than 50 active advocacy groups, the RDCRN has provided GLIA-CRN with a framework to encourage advocacy leaders and researchers to work together, ensuring that the data being collected ultimately provides value to patients.
To learn more about leukodystrophies, visit theglia.org.
To learn more about RDCRN, visit rarediseasesnetwork.org/.
To see more interviews with RDCRN Consortium researchers, visit checkrare.com/rare-diseases-clinical-research-network/